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["Supplemental Table 1: Clinical details of the 16 patients included in this study. Patients SCN7 and CGD6 had their causative genes identified as a result of this study. The causative genes of the rest of the patients were known a priori. NBT, nitroblue tetrazolium test; G-CSF, granulocyte colony-stimulating factor."]
["Patient","Age in years, gender","Clinical phenotype","Causative gene","Molecular genetics","Cellular phenotype","Treatment"]
["SCN1","10, m","SCN","ELANE","NM_001972.3(ELANE):c.545delG","No bone marrow results available","G-CSF"]
["SCN2","19, m","SCN","ELANE","NM_001972.3(ELANE):c.684C>A","Granulocyte maturation defect","G-CSF"]
["SCN3","24, f","SCN","ELANE","NM_001972.3(ELANE):c.308G>T","Granulocyte maturation defect","G-CSF"]
["SCN4","16, m","SCN","ELANE","NM_001972.3(ELANE):c.597+5G>A","No bone marrow results available","G-CSF"]
["SCN5","5, f","SCN","ELANE","NM_001972.3(ELANE):c.597+5G>A","No bone marrow results available","G-CSF"]
["SCN6","10, m","SCN","ELANE","NM_001972.3(ELANE):c.508C>T","Granulocyte maturation defect","G-CSF"]
["SCN7","1, m","SCN, albinism","RAB27A*","NM_004580.4(RAB27A):c.148_149delinsC","No bone marrow results available","Sporadic therapy at times of infection"]
["CGD1","19, m","CGD","CYBB","NM_000397.3(CYBB):c.804+2T>C","NBT: 0%","Prophylactic antibiotics"]
["CGD2","<20, m","CGD","CYBB","NM_000397.3(CYBB):c721-725 del ATAAC","NBT: 0%","Prophylactic antibiotics"]
["CGD3","11, m","CGD","CYBB","NM_000397.3(CYBB):c.804+2T>C","NBT: 0%","Prophylactic antibiotics"]
["CGD5","3, f","CGD","CYBA","NM_000101.3(CYBA):c.388C>T","NBT: 0%","Prophylactic antibiotics, Interferon gamma"]
["CGD4","7, m","CGD","CYBA","NM_000101.3(CYBA):c.388C>T","NBT: 0%","Prophylactic antibiotics, Interferon gamma"]
["CGD6","28, f","CGD","NCF1*","NM_000265.5(NCF1):c.75_76delGT","NBT: 0%","Sporadic therapy at times of infection"]
["LAD1","4, m","LAD","ITGB2","NM_000211.4(ITGB2):c.562C>T","No flow cytometry results available","Sporadic therapy at times of infection"]
["LAD2","14, f","LAD","ITGB2","NM_000211.4(ITGB2):c.706G>T","No flow cytometry results available","Sporadic therapy at times of infection"]
["LAD3","4 months, m","LAD","SLC35C1","NM_018389.4(SLC35C1):c.267delA","No flow cytometry results available","Sporadic therapy at times of infection"]